Generalized epilepsy in Baraitser-Winter cerebrofrontofacial syndrome

Seth Andrew Climans; Seyed M Mirsattari

doi:10.1016/j.ebcr.2017.03.003

Generalized epilepsy in Baraitser-Winter cerebrofrontofacial syndrome

Epilepsy Behav Case Rep. 2017 Mar 18:7:58-60. doi: 10.1016/j.ebcr.2017.03.003. eCollection 2017.

Authors

Seth Andrew Climans¹, Seyed M Mirsattari^{1

2

3

4}

Affiliations

¹ Department of Clinical Neurological Sciences, The University of Western Ontario, London, Canada.
² Department of Medical Imaging, The University of Western Ontario, London, Canada.
³ Department of Medical Biophysics, The University of Western Ontario, London, Canada.
⁴ Department of Psychology, The University of Western Ontario, London, Canada.

Abstract

•Baraitser-Winter cerebrofrontofacial syndrome (BWMS) is caused by actin gene mutations.•Key features of BWMS are ptosis, hypertelorism, iris colobomata, and mental retardation.•Generalized epilepsy is seen in half of those with BWMS.•Seizures in BWMS can be absence, myoclonic, tonic, or tonic-clonic.

Keywords: Baraitser–Winter cerebrofrontofacial syndrome; Dysmorphology; Generalized epilepsy; Video EEG.

Publication types

Case Reports